Findings

This mutation (g.26453775 A>C NC_000021.7) was first identified in a 46-year-old Italian patient with early onset AD. She began experiencing memory deficits at the age of 43 and met NINCDS-ADRDA criteria for probable AD. In addition to memory impairment, she also had apraxia and behavioral disturbances. She had a family history of dementia but segregation could not be evaluated. This variant was not detected in 101 unrelated, elderly, cognitively intact controls (Ghidoni et al., 2009).